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Test Code PFK1 Phosphofructokinase Enzyme Activity, Blood


Specimen Required


Collection Container/Tube:

Preferred: Yellow top (ACD solution B)

Acceptable: Lavender top (EDTA)

Specimen Volume: 6 mL

Collection Instructions: Send specimen in original tube. Do not transfer blood to other containers.


Useful For

Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia

 

Evaluation of individuals with exercise intolerance or myopathy

 

Genetic studies in families with phosphofructokinase deficiency

Method Name

Kinetic Spectrophotometry

Reporting Name

Phosphofructokinase, B

Specimen Type

Whole Blood ACD-B

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood ACD-B Refrigerated 11 days

Reject Due To

Gross hemolysis Reject
Fully clotted Reject

Reference Values

≥12 months of age: 5.8-10.9 U/g Hb

Reference values have not been established for patients who are <12 months of age.

Interpretation

Clinically significant disorders due to phosphofructokinase deficiency are associated with red blood cell activity levels less than 50% of mean normal. Unaffected heterozygotes have been reported with levels of 63% of normal. Therefore, genetic correlation will often be important in ambiguous cases.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PFK1 Phosphofructokinase, B 72664-6

 

Result ID Test Result Name Result LOINC Value
PFKCL Phosphofructokinase, B 72664-6

Day(s) Performed

Tuesday, Thursday

Report Available

1 to 6 days

Forms

If not ordering electronically, complete, print, and send a Benign Hematology Test Request (T755) with the specimen.